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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel … See abstract for full author list ➔ van Rheenen W, et al. Among authors: pal s. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions.
Cleary EM, Pal S, Azam T, Moore DJ, Swingler R, Gorrie G, Stephenson L, Colville S, Chandran S, Porteous M, Warner JP. Cleary EM, et al. Among authors: pal s. Mol Cell Probes. 2016 Aug;30(4):218-224. doi: 10.1016/j.mcp.2016.06.001. Epub 2016 Jun 7. Mol Cell Probes. 2016. PMID: 27288208 Free PMC article.
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
Black HA, Leighton DJ, Cleary EM, Rose E, Stephenson L, Colville S, Ross D, Warner J, Porteous M, Gorrie GH, Swingler R, Goldstein D, Harms MB, Connick P, Pal S, Aitman TJ, Chandran S. Black HA, et al. Among authors: pal s. Neurobiol Aging. 2017 Mar;51:178.e11-178.e20. doi: 10.1016/j.neurobiolaging.2016.12.013. Epub 2016 Dec 21. Neurobiol Aging. 2017. PMID: 28089114 Free PMC article.
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS.
Crockford C, Newton J, Lonergan K, Chiwera T, Booth T, Chandran S, Colville S, Heverin M, Mays I, Pal S, Pender N, Pinto-Grau M, Radakovic R, Shaw CE, Stephenson L, Swingler R, Vajda A, Al-Chalabi A, Hardiman O, Abrahams S. Crockford C, et al. Among authors: pal s. Neurology. 2018 Oct 9;91(15):e1370-e1380. doi: 10.1212/WNL.0000000000006317. Epub 2018 Sep 12. Neurology. 2018. PMID: 30209236 Free PMC article.
Improved survival and 30-day mortality after gastrostomy in Scottish motor neurone disease patients: evidence from a national retrospective cohort study using STROBE criteria.
Gorrie GH, Chandran S, Colville S, Newton J, Leighton D, Mcdonald M, Pal S, Forbes R, Hair M, Swingler R. Gorrie GH, et al. Among authors: pal s. Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):165-171. doi: 10.1080/21678421.2019.1570271. Epub 2019 Mar 5. Amyotroph Lateral Scler Frontotemporal Degener. 2019. PMID: 30835562
The brief Dimensional Apathy Scale: A short clinical assessment of apathy.
Radakovic R, McGrory S, Chandran S, Swingler R, Pal S, Stephenson L, Colville S, Newton J, Starr JM, Abrahams S. Radakovic R, et al. Among authors: pal s. Clin Neuropsychol. 2020 Feb;34(2):423-435. doi: 10.1080/13854046.2019.1621382. Epub 2019 Jun 3. Clin Neuropsychol. 2020. PMID: 31154933
4,452 results